Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP824370.RAdBJ_xrUAxsv4Lcb319tn5GSKVny1l7VxeYmsiZ7FV0Y130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP824370.RAdBJ_xrUAxsv4Lcb319tn5GSKVny1l7VxeYmsiZ7FV0Y130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP824370.RAdBJ_xrUAxsv4Lcb319tn5GSKVny1l7VxeYmsiZ7FV0Y130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP824370.RAdBJ_xrUAxsv4Lcb319tn5GSKVny1l7VxeYmsiZ7FV0Y130_provenance.
- NP824370.RAdBJ_xrUAxsv4Lcb319tn5GSKVny1l7VxeYmsiZ7FV0Y130_assertion description "[Both codon 273 and 318 mutations yielding frameshift and premature stop codons at codons 279 and 367, respectively, are predicted to result in an altered and truncated type II 3 beta-HSD protein, thereby causing salt-wasting 3 beta-HSD deficiency in the patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP824370.RAdBJ_xrUAxsv4Lcb319tn5GSKVny1l7VxeYmsiZ7FV0Y130_provenance.
- NP824370.RAdBJ_xrUAxsv4Lcb319tn5GSKVny1l7VxeYmsiZ7FV0Y130_assertion evidence source_evidence_literature NP824370.RAdBJ_xrUAxsv4Lcb319tn5GSKVny1l7VxeYmsiZ7FV0Y130_provenance.
- NP824370.RAdBJ_xrUAxsv4Lcb319tn5GSKVny1l7VxeYmsiZ7FV0Y130_assertion SIO_000772 8550766 NP824370.RAdBJ_xrUAxsv4Lcb319tn5GSKVny1l7VxeYmsiZ7FV0Y130_provenance.
- NP824370.RAdBJ_xrUAxsv4Lcb319tn5GSKVny1l7VxeYmsiZ7FV0Y130_assertion wasDerivedFrom befree-20150227 NP824370.RAdBJ_xrUAxsv4Lcb319tn5GSKVny1l7VxeYmsiZ7FV0Y130_provenance.
- NP824370.RAdBJ_xrUAxsv4Lcb319tn5GSKVny1l7VxeYmsiZ7FV0Y130_assertion wasGeneratedBy ECO_0000203 NP824370.RAdBJ_xrUAxsv4Lcb319tn5GSKVny1l7VxeYmsiZ7FV0Y130_provenance.
- befree-20150227 importedOn "2015-02-27" NP824370.RAdBJ_xrUAxsv4Lcb319tn5GSKVny1l7VxeYmsiZ7FV0Y130_provenance.